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Rabson Mendenhall

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https://www.readbyqxmd.com/read/27891155/rabson-mendenhall-syndrome-caused-by-a-novel-missense-mutation
#1
Krishnapradeep Sinnarajah, M B K C Dayasiri, N D W Dissanayake, S T Kudagammana, A H H M Jayaweera
BACKGROUND: Rabson Mendenhall syndrome is a rare endocrine condition characterized by severe insulin resistance and hyperglycemia. It occurs due to mutations in the insulin receptor gene. Few mutations which are associated with Rabson Mendenhall syndrome have been identified and reported in the past. The management of this condition is extremely challenging and will need multi-disciplinary approach. CASE PRESENTATION: An 11 year old boy presented with polyuria and polydipsia...
2016: International Journal of Pediatric Endocrinology
https://www.readbyqxmd.com/read/27326825/identification-of-a-novel-homozygous-insr-variant-in-a-patient-with-rabson-mendenhall-syndrome-from-the-united-arab-emirates
#2
Fatma Bastaki, Pratibha Nair, Madiha Mohamed, Manal Mustafa Khadora, Fatima Saif, Nafisa Tawfiq, Mahmoud Taleb Al-Ali, Abdul Rezzak Hamzeh
BACKGROUND/AIMS: This study aimed to identify, clinically and molecularly, the causality of Rabson-Mendenhall syndrome in an Emirati family. It is one of the monogenic syndromes of abnormal glucose homeostasis, which result from insulin receptor defects. METHODS: A novel nonsynonymous variant in the INSR gene was uncovered by whole exome sequencing and confirmed using Sanger sequencing in the patient and his parents. Various in silico tools were utilized to analyze the functional consequences of the variant...
June 22, 2016: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/27112737/treatment-of-diabetic-ketoacidosis-with-intravenous-u-500-insulin-in-a-patient-with-rabson-mendenhall-syndrome-a-case-report
#3
Megan M Moore, Abby M Bailey, Alexander H Flannery, Regan A Baum
Rabson-Mendenhall syndrome is a rare genetic disorder resulting from mutations in the insulin receptor and is associated with high degrees of insulin resistance. These patients are prone to complications secondary to their hyperglycemia including diabetic ketoacidosis (DKA). We report the case of a 19-year-old male with Rabson-Mendenhall syndrome presenting with DKA who required doses of up to 500 U/h (10.6 U/kg/h) of insulin. The patient's insulin infusion was originally compounded with U-100 regular insulin, although to minimize volume, the product was compounded with U-500 insulin...
April 24, 2016: Journal of Pharmacy Practice
https://www.readbyqxmd.com/read/26691667/a-novel-homozygous-missense-mutation-in-the-insulin-receptor-gene-results-in-an-atypical-presentation-of-rabson-mendenhall-syndrome
#4
Rim Ben Abdelaziz, Amel Ben Chehida, Hatem Azzouz, Hela Boudabbous, Olivier Lascols, Hadhami Ben Turkia, Néji Tebib
Leprechaunism (Donohue syndrome) and Rabson-Mendenhall syndrome are caused by mutations in the insulin receptor gene and are associated with extreme insulin resistance. Clinically these syndromes appear to represent points on a continuum of severity of receptor dysfunction, rather than completely distinct syndromes. We investigated a Libyan infant with growth retardation, facial dysmorphism (elfin-like features), acanthosis nigricans and hirsutism. Fasting hypoglycaemia and postprandial hyperglycaemia with persistent hyperinsulinemia were found...
January 2016: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/26438710/case-report-when-an-induced-illness-looks-like-a-rare-disease
#5
Ivana Rabbone, Alfonso Galderisi, Davide Tinti, Maria Giovanna Ignaccolo, Fabrizio Barbetti, Franco Cerutti
The recognition of fabricated illness (FI) in a child represents a diagnostic challenge. The suspicion of FI often arises from the discrepancy between laboratory tests and clinical history. For instance, (unnecessary) insulin injections by caregivers has been widely described as a common cause of factitious hypoglycemia that may be inferred from discrepancies between plasma insulin and c-peptide. However, contemporary administration of insulin with an insulin secretagogue (glyburide), and of additional drugs, can make the diagnostic pathway problematic...
November 2015: Pediatrics
https://www.readbyqxmd.com/read/26030966/-the-conference-rare-diseases-not-only-in-the-curriculum-in-szczecin
#6
Michał M Skoczylas
The conference 'Rare diseases not only in the curriculum', organised on 12th May, 2014 in Pomeranian Medical University in Szczecin, had a scientific and educational character. Representatives of patient organizations, medical students, junior doctors and physiotherapist were active participants of the meeting. There were rare diseases presented--from the medical curriculum, e.g., Wilson disease, Noonan syndrome and Diamond Blackfan anemia--and diseases that are not discussed in the course of medical studies in Poland, as Costello syndrome, Rabson-Mendenhall syndrome and cholestasis familiaris groenlandica--Byler-like disease...
2014: Wiadomości Lekarskie: Organ Polskiego Towarzystwa Lekarskiego
https://www.readbyqxmd.com/read/25484423/rabson-mendenhall-syndrome
#7
Iffat Hassan, Hinah Altaf, Atiya Yaseen
Rabson-Mendenhall syndrome (RMS) is a rare genetic disorder characterized by growth retardation, dysmorphisms, lack of subcutaneous fat, acanthosis nigricans, enlarged genitalia, hirsutism, dysplastic dentition, coarse facial features, abnormal glucose homeostasis, hyperinsulinemia and pineal hyperplasia. Herein, we describe a 13-year-old girl with physical features of RMS who presented to us on account of acanthosis nigricans.
November 2014: Indian Journal of Dermatology
https://www.readbyqxmd.com/read/25358339/insulin-receptor-and-the-kidney-nephrocalcinosis-in-patients-with-recessive-insr-mutations
#8
Arabella Simpkin, Elaine Cochran, Fergus Cameron, Mehul Dattani, Martin de Bock, David B Dunger, Gun Forsander, Tulay Guran, Julie Harris, Iona Isaac, Khalid Hussain, Robert Kleta, Catherine Peters, Velibor Tasic, Rachel Williams, Fabian Yap Kok Peng, Stephan O'Rahilly, Philipp Gorden, Robert K Semple, Detlef Bockenhauer
Background/Aims: Donohue and Rabson-Mendenhall syndrome are rare autosomal recessive disorders caused by mutations in the insulin receptor gene, INSR. Phenotypic features include extreme insulin resistance, linear growth retardation, paucity of fat and muscle, and soft tissue overgrowth. The insulin receptor is also expressed in the kidney, where animal data suggest it plays a role in glomerular function and blood pressure (BP) regulation, yet such a role in the human kidney is untested. Patients with biallelic INSR mutations provide a rare opportunity to ascertain its role in man...
October 24, 2014: Nephron. Physiology
https://www.readbyqxmd.com/read/25156686/leptin-treatment-facts-and-expectations
#9
REVIEW
Gilberto Paz-Filho, Claudio A Mastronardi, Julio Licinio
Leptin has key roles in the regulation of energy balance, body weight, metabolism, and endocrine function. Leptin levels are undetectable or very low in patients with lipodystrophy, hypothalamic amenorrhea, and congenital leptin deficiency (CLD) due to mutations in the leptin gene. For these patients, leptin replacement therapy with metreleptin (a recombinant leptin analog) has improved or normalized most of their phenotypes, including normalization of endocrine axes, decrease in insulin resistance, and improvement of lipid profile and hepatic steatosis...
January 2015: Metabolism: Clinical and Experimental
https://www.readbyqxmd.com/read/25027621/-severe-type-a-insulin-resistance-syndrome-due-to-a-mutation-in-the-insulin-receptor-gene
#10
P Ros, E Colino-Alcol, V Grasso, F Barbetti, J Argente
Insulin resistance syndromes without lipodystrophy are an infrequent and heterogeneous group of disorders with variable clinical phenotypes, associated with hyperglycemia and hyperinsulinemia. The three conditions related to mutations in the insulin receptor gene are leprechaunism or Donohue syndrome, Rabson-Mendenhall syndrome, and Type A syndrome. A case is presented on a patient diagnosed with type A insulin resistance, defined by the triad of extreme insulin resistance, acanthosis nigricans, and hyperandrogenism, carrying a heterozygous mutation in exon 19 of the insulin receptor gene coding for its tyrosine kinase domain that is crucial for the catalytic activity of the receptor...
January 2015: Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría (A.E.P.)
https://www.readbyqxmd.com/read/24468607/identification-of-a-novel-insulin-receptor-gene-heterozygous-mutation-in-a-patient-with-type-a-insulin-resistance-syndrome
#11
Angela Domínguez-García, Rosa Martínez, Inés Urrutia, Intza Garin, Luis Castaño
BACKGROUND: Several types of mutations in the insulin receptor gene have been identified in patients with genetic syndromes of insulin resistance. PATIENT REPORT: We describe a 12-year-old girl with type A insulin resistance with hyperandrogenism, hyperinsulinemia, and diabetes mellitus but without the dysmorphic characteristic of leprechaunism or Rabson-Mendenhall syndrome. The proband's mother had hyperinsulinemia and diabetes mellitus but did not show any common clinical features of type A insulin resistance...
May 2014: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/24267141/-a-case-of-rabson-mendenhall-syndrome
#12
Li Ma, Jian Wang, Yuan-xun Fang
No abstract text is available yet for this article.
July 2013: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/23969187/metreleptin-improves-blood-glucose-in-patients-with-insulin-receptor-mutations
#13
Rebecca J Brown, Elaine Cochran, Phillip Gorden
CONTEXT: Rabson-Mendenhall syndrome (RMS) is caused by mutations of the insulin receptor and results in extreme insulin resistance and dysglycemia. Hyperglycemia in RMS is very difficult to treat, and patients are at risk for early morbidity and mortality from complications of diabetes. OBJECTIVE: Our objective was to study 1-year effects of recombinant human methionyl leptin (metreleptin) in 5 patients with RMS and 10-year effects in 2 of these patients. DESIGN AND SETTING: We conducted an open-label nonrandomized study at the National Institutes of Health...
November 2013: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/23824322/six-cases-with-severe-insulin-resistance-sir-associated-with-mutations-of-insulin-receptor-is-a-bartter-like-syndrome-a-feature-of-congenital-sir
#14
Valeria Grasso, Carlo Colombo, Valeria Favalli, Alfonso Galderisi, Ivana Rabbone, Sara Gombos, Enzo Bonora, Ornella Massa, Franco Meschi, Franco Cerutti, Dario Iafusco, Riccardo Bonfanti, Carla Monciotti, Fabrizio Barbetti
Biallelic insulin receptor (INSR) gene mutations cause congenital syndromes of severe insulin resistance (SIR) known as Donohue syndrome (DS) and Rabson-Mendenhall syndrome (RMS). At presentation, DS and RMS are difficult to differentiate since they share many clinical features; however, while patients with DS usually die within 1 year of birth, individuals classified as RMS can reach adult age. INSR mutations can be also found in pubertal females with hyperinsulinism, hyperandrogenism, and acanthosis nigricans (type A SIR)...
December 2013: Acta Diabetologica
https://www.readbyqxmd.com/read/23497647/renal-manifestations-of-severe-rabson-mendenhall-syndrome-a-case-report
#15
Yih Harng Chong, Barry J Taylor, Benjamin J Wheeler
INTRODUCTION: Rabson-Mendenhall Syndrome (RMS) is a rare form of severe insulin resistance due to a recessive mutation of the insulin receptor. Associated manifestations include facial dysmorphism, skin abnormalities, and renal anomalies. CASE PRESENTATION: We report a case of a 13 year old African female with RMS, severe insulin resistance, and a cluster of renal pathologies including nephromegaly, nephrolithiasis, hydronephrosis, and medullary sponge kidney. CONCLUSION: This is the first case of severe insulin resistance associated with the collection of renal conditions described...
2013: Journal of Diabetes and Metabolic Disorders
https://www.readbyqxmd.com/read/23367497/syndrome-of-extreme-insulin-resistance-rabson-mendenhall-phenotype-with-atrial-septal-defect-clinical-presentation-and-treatment-outcomes
#16
Deep Dutta, Indira Maisnam, Sujoy Ghosh, Satinath Mukhopadhyay, Subhankar Chowdhury
Syndrome of extreme insulin resistance (SEIR) is a rare spectrum disorder with a primary defect in insulin receptor signalling, noted primarily in children, and is often difficult to diagnose due to the clinical heterogeneity.SEIR was diagnosed in an adolescent girl with facial dysmorphism,exuberant scalp and body hair, severe acanthosis, lipoatrophy, dental abnormalities, and short stature (Rabson-Mendenhall phenotype). She had elevated fasting (422.95 pmol/L) and post-glucose insulin levels(>2083 pmol/L)...
2013: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/23347304/rabson-mendenhall-syndrome-with-recurrent-cerebral-infarcts-caused-by-a-novel-insr-mutation
#17
Saritha Mohanan, Laxmisha Chandrashekar, Robert K Semple, Devinder M Thappa, Narayanan Parameswaran, Vir S Negi, Sivaranjini Ramassamy
Rabson-Mendenhall syndrome (RMS) is an autosomal recessive disorder characterized by extreme insulin resistance and certain characteristic phenotypic features. The primary defect lies in the insulin receptor and involves biallelic mutations that lead to a loss of function through various postulated defects. We present a 9-year-old female patient with RMS complicated by multiple cerebral infarcts, in whom genetic analysis revealed a novel insulin receptor mutation.
February 2013: International Journal of Dermatology
https://www.readbyqxmd.com/read/23272513/rare-types-of-diabetes-mellitus
#18
B Mihai, Cătălina Mihai, Cristina Cijevschi-Prelipcean, Cristina Lăcătuşu
Diabetes mellitus is a heterogenous disorder characterized by chronic hyperglycemia and induced by a large number of etiopathogenic conditions. Beside type 1 and type 2 diabetes, which account for almost 90% of all cases, practitioners may encounter patients with more infrequent forms of diabetes, as those induced by mutations of a single gene, atypical immune disorders or neonatal diabetes. Monogenic diabetes is represented by genetic disorders in the structure of the beta-cell (the MODY syndromes and the mutations of mitochondrial DNA) or in the insulin's action (type A insulin resistance syndrome, Rabson-Mendenhall syndrome, leprechaunism, lipodystrophies)...
July 2012: Revista Medico-chirurgicală̆ a Societă̆ţ̜ii de Medici ş̧i Naturaliş̧ti Din Iaş̧i
https://www.readbyqxmd.com/read/23263437/rabson-mendenhall-syndrome
#19
J Gupta, Jonathan M Daniel, V Vasudevan
Rabson-Mendenhall syndrome is a rare, autosomal recessive disorder affecting insulin receptor. This disorder is characterized by insulin-resistant diabetes mellitus, hyperinsulinemia, deficiency of subcutaneous fat, acanthosis nigrican, growth retardation, coarse and senile appearance, precocious puberty, and dental prematurity, enlarged genitalia, and pineal hyperplasia. Mutations of the insulin receptor gene affecting insulin action appear to be the basic mechanism underlying this syndrome. Herein, we present a case report on Rabson-Mendenhall syndrome in a 9-year-old girl...
July 2012: Journal of the Indian Society of Pedodontics and Preventive Dentistry
https://www.readbyqxmd.com/read/22876563/a-case-of-rabson-mendenhall-syndrome-with-a-novel-mutation-in-the-tyrosine-kinase-domain-of-the-insulin-receptor-gene-complicated-by-medullary-sponge-kidney
#20
Yuki Abe, Takashi Sato, Masaki Takagi, Toru Watanabe, Yoshihisa Nagayama, Tomonobu Hasegawa, Tokinari Abe
Rabson-Mendenhall syndrome (RMS) is a genetic disorder characterized by severe insulin resistance and somatic characteristics. Recombinant insulin-like growth factor 1 (r-IGF-1) is used to treat RMS, as the IGF-1 and insulin receptors share homology. However, the effect of r-IGF-1 varies in patients and it is difficult to manage metabolic status appropriately in r-IGF-1 resistant cases. We report a Japanese boy with RMS who showed resistance to r-IGF-1 therapy and a novel mutation in the insulin receptor in the tyrosine kinase domain...
2012: Journal of Pediatric Endocrinology & Metabolism: JPEM
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